Ataxia - paediatric
Gene: ABCB7
ABCB7 (ATP binding cassette subfamily B member 7)
EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
ABC7 is an ortholog of the yeast ATM1 gene, whose product localizes to the mitochondrial inner membrane and is involved in iron homeostasis. At least 3 unrelated families reported, functional data.Created: 4 Apr 2021, 10:41 a.m. | Last Modified: 4 Apr 2021, 10:41 a.m.
Panel Version: 0.7006
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anaemia, sideroblastic, with ataxia, MIM# 301310
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Anemia, sideroblastic, with ataxia
- Sideroblastic Anemia and Ataxia
- Anemia, sideroblast with ataxia, 300135
- OMIM
- 300135
- Clinvar variants
- Variants in ABCB7
- Penetrance
- None
- Panels with this gene
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ABCB7 was added gene: ABCB7 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; Anemia, sideroblast with ataxia, 300135